V36I (p.Val36Ile) variant of KRT6A (Keratin, type II cytoskeletal 6A)
V36I (p.Val36Ile) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
V36I (p.Val36Ile) variant details
- p.Val36Ile
- rs755172711
- ClinGen CA6582340
- ClinVar RCV000899967
- 1000Genomes rs755172711
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0493
- REVEL 0.01
- CADD 6.53
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available